Endocrine Abstracts

Background: Alstrom syndrome (AS; OMIM#203800) is a rare (<1:100.000) autosomal recessive monogenic ciliopathy and it is caused by mutations in ALMS1 (chromosome 2p13), which function is still unknown. AS is characterized by multisystemic fibrosis, cone-rod retinal dystrophy leading to blindness, hearing loss, obesity, type 2 diabetes mellitus (T2DM), dilated cardiomyopathy, and progressive hepatic and renal failure. Most patients present neurological issue on developmenta...

Cushing’s disease (CD) is the most common cause of endogenous Cushing’s syndrome in children and adolescents and represents a rare cause of short stature. A 14-year-old boy came to our attention for progressive weight gain and short stature. Birth length and weight were normal; clinical history was negative for use of glucocorticoids. At examination, height was 140 cm (3th centile), weight was 37.7 kg (10th centile). Tanner stage was: G2, PH 3, testis 3 ml. Hypothyro...

The prevalence of the metabolic syndrome is increasing worldwide. The untreated metabolic syndrome places individuals at risk both for diabetes and cardiovascular disease. Adult GH deficiency syndrome present some of the 5 features of the metabolic syndrome, abdominal obesity, high triglycerides, low HDL-cholesterol, elevations of blood glucose, hypertension and a 2-fold higher risk of death for CD compared with controls. The aim of this study was to determine the prevalence o...

Inflammation activates a variety of inflammatory cells, which induce and activate several oxidant-generating enzymes which are able to produce high concentrations of free radicals and oxidants which react with each other to generate other more potent reactive oxygen and nitrogen species such as peroxynitrite (ONOO−) that can damage DNA, RNA, lipids, and proteins by nitration, oxidation, etc., leading to increased mutations and altered functions of enzymes and ...

Sphingosine-1 phosphate (S1P) is a lysosphingolipid present in the ovarian follicular fluid at the nanomolar concentration. The physiological functions of S1P are mediated through five specific G protein-coupled receptors (GPCRs), known as S1PR1-5. S1PR1 and S1PR3 are expressed in human primary granulosa lutein cells (hGLC), as well as in the immortalized human primary granulosa cell line hGL5. S1PRs are activated at nanomolar concentrations inducing specific activation or inh...

HIV-1-infected patients under antirretroviral treatment develop the so-called ‘lipodystrophy syndrome’. It is characterized by peripheral lipoatrophy (face, limbs), visceral lipohypertrophy, and, sometimes abnormal accumulation of subcutaneous fat in specific sites, especially the dorso-cervical area. The abnormal fat distribution is associated with systemic alterations characteristic of the metabolic syndrome (dyslipidemia, insulin resistance). Drugs are importantly...

Mechanisms regulating the selection of antral ovarian follicles are poorly understood and supposed to rely on low estrogen levels, decline of follicle-stimulating hormone (FSH) levels and receptor (FSHR) expression on the surface of granulosa cells. These concepts are challenged in-vitro, where apoptosis of human granulosa cells (hGLC) and transfected cell lines is induced by high doses of FSH or FSHR overexpression, while estrogens induce anti-apoptotic signals via n...

In the last 50 years survival after childhood cancer has dramatically improved. However, childhood cancer survivors (CCS) are at risk for a considerable array of late effects arising from previous anti-cancer therapies. The excess mortality (compared with the general population) in CCS is mostly due to second neoplasms and cardiovascular diseases. Indeed, the cardiovascular system has been recognized as a highly sensitive target for damage by anti-cancer therapies. Early in th...

The polycystic ovary syndrome (PCOS) is actually considered not only a reproductive disease but also a multifaceted disease with metabolic, cardiovascular and long-term health implications, including diabetes mellitus and coronary artery disease. In particular, insulin resistance, hyperandrogenemia and dyslipidemia are likely the major risk factors for the occurrence of cardiovascular disease (CVD) in PCOS. These cardiovascular risk (CVR) factors are often evident at an early ...

Background: MiRNAs transported by exosomes play a role in various processes of tumorigenesis and tumor progression. They can function as oncogenes able to structurally and biologically change the tumor microenvironment (TME) therefore playing a crucial role in cell-to-cell communication during tumor development and allowing cancer cells to become invasive and disseminate from the primary site to distant locations.We aimed to identify the exosome miRNAs that may be involved in ...